Canonical Allele Identifier: CA1869916590
Gene: ABCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.104790810_104790811delinsAC , CM000671.2:g.104790810_104790811delinsAC GRCh38
NC_000009.11:g.107553091_107553092delinsAC , CM000671.1:g.107553091_107553092delinsAC GRCh37
NC_000009.10:g.106592912_106592913delinsAC NCBI36
NG_007981.1:g.142345_142346delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000374736.8:c.5927+111_5927+112delinsGT MANE Select ENSP00000363868.3:n.5927+111_5927+112deli...
ENST00000678995.1:c.5933+111_5933+112delinsGT ENSP00000504612.1:n.5933+111_5933+112deli...
ENST00000374736.7:c.5927+111_5927+112delinsGT ENSP00000363868.3:n.5927+111_5927+112deli...
NM_005502.3:c.5927+111_5927+112delinsGT NP_005493.2:n.5927+111_5927+112delinsGT
XM_005251773.1:c.5933+111_5933+112delinsGT XP_005251830.1:n.5933+111_5933+112delinsG...
XM_005251776.1:c.5753+111_5753+112delinsGT XP_005251833.1:n.5753+111_5753+112delinsG...
XM_011518339.1:c.6008+111_6008+112delinsGT XP_011516641.1:n.6008+111_6008+112delinsG...
XM_011518340.1:c.6008+111_6008+112delinsGT XP_011516642.1:n.6008+111_6008+112delinsG...
XM_011518341.1:c.6002+111_6002+112delinsGT XP_011516643.1:n.6002+111_6002+112delinsG...
XM_011518342.1:c.5570+111_5570+112delinsGT XP_011516644.1:n.5570+111_5570+112delinsG...
XM_011518343.1:c.6008+111_6008+112delinsGT XP_011516645.1:n.6008+111_6008+112delinsG...
XM_005251773.3:c.5933+111_5933+112delinsGT XP_005251830.1:n.5933+111_5933+112delinsG...
XM_005251776.3:c.5753+111_5753+112delinsGT XP_005251833.1:n.5753+111_5753+112delinsG...
XM_011518339.3:c.6008+111_6008+112delinsGT XP_011516641.1:n.6008+111_6008+112delinsG...
XM_011518340.3:c.6008+111_6008+112delinsGT XP_011516642.1:n.6008+111_6008+112delinsG...
XM_011518341.3:c.6002+111_6002+112delinsGT XP_011516643.1:n.6002+111_6002+112delinsG...
XM_011518342.3:c.5570+111_5570+112delinsGT XP_011516644.1:n.5570+111_5570+112delinsG...
XM_017014378.2:c.6008+111_6008+112delinsGT XP_016869867.1:n.6008+111_6008+112delinsG...
XM_017014379.2:c.6008+111_6008+112delinsGT XP_016869868.1:n.6008+111_6008+112delinsG...
XM_017014380.2:c.6008+111_6008+112delinsGT XP_016869869.1:n.6008+111_6008+112delinsG...
XM_017014381.2:c.6008+111_6008+112delinsGT XP_016869870.1:n.6008+111_6008+112delinsG...
XM_017014382.2:c.5870+111_5870+112delinsGT XP_016869871.1:n.5870+111_5870+112delinsG...
XR_001746223.1:n.6321+111_6321+112delinsGT
NM_005502.4:c.5927+111_5927+112delinsGT MANE Select NP_005493.2:n.5927+111_5927+112delinsGT